Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.R387H
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PYGM

NM_005609.4:p.R387H

Associated Papers

Genetic variants associated with cardiac hypertrophy-related sudden cardiac death and cardiovascular outcomes in a Finnish population.

Doedens A et al.

Heart (british Cardiac Society), 2024

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

French CE et al.

Intensive Care Medicine, 2019

30847515 (PubMed )
Supplement: 134_2019_5552_MOESM1_ESM.pdf

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.

De Castro M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."